Canonical Allele Identifier: CA007960

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67469
• ClinVar RCV Id: RCV000058197 ; RCV000454975 ; RCV000795860 ; RCV001548137 ; RCV001841742 ; RCV002477190 ; RCV004019014
• dbSNP Id: rs199473022
• ExAC: 7:150644461 C / T
• gnomAD v2: 7-150644461-C-T
• gnomAD v3: 7-150947373-C-T
• gnomAD v4: 7-150947373-C-T
• MyVariant Identifiers: chr7:g.150644461C>T (hg19) ; chr7:g.150947373C>T (hg38)
• PubMed: PMID:15840476 ; PMID:18675227 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947373C>T , CM000669.2:g.150947373C>T	GRCh38
NC_000007.13:g.150644461C>T , CM000669.1:g.150644461C>T	GRCh37
NC_000007.12:g.150275394C>T	NCBI36
NG_008916.1:g.35554G>A , LRG_288:g.35554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3940G>A
ENST00000262186.10:c.3107G>A MANE Select	ENSP00000262186.5:p.Gly1036Asp
ENST00000330883.9:c.2087G>A	ENSP00000328531.4:p.Gly696Asp
ENST00000262186.9:c.3107G>A	ENSP00000262186.5:p.Gly1036Asp
ENST00000330883.8:c.2087G>A	ENSP00000328531.4:p.Gly696Asp
NM_000238.3:c.3107G>A , LRG_288t1:c.3107G>A	NP_000229.1:p.Gly1036Asp
NM_172057.2:c.2087G>A , LRG_288t3:c.2087G>A	NP_742054.1:p.Gly696Asp
XM_011516185.1:c.2807G>A	XP_011514487.1:p.Gly936Asp
XM_011516185.2:c.2807G>A	XP_011514487.1:p.Gly936Asp
XM_017012195.1:c.2957G>A	XP_016867684.1:p.Gly986Asp
XM_017012196.1:c.2930G>A	XP_016867685.1:p.Gly977Asp
NM_000238.4:c.3107G>A MANE Select	NP_000229.1:p.Gly1036Asp
NM_172057.3:c.2087G>A	NP_742054.1:p.Gly696Asp